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Dissertations / Theses on the topic '16p11.2'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Kamara, Dana Eliya. "Characterizing the Sleep Phenotype in 16p11.2 Deletion and Duplication." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1590253282112184.

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2

Ouellette, Julie. "Role of Cerebrovascular Abnormalities in the 16p11.2 Deletion Autism Syndrome." Thesis, Université d'Ottawa / University of Ottawa, 2019. http://hdl.handle.net/10393/38740.

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Brain development and function rely on vascular features that ensure adequate supply of oxygen and nutrients from the blood stream. These features consist of a well-established vascular network, a functional blood-brain barrier, as well as cerebral blood flow regulation. Early life impairments in these features can lead to neurodevelopmental defects. Very few studies have considered the contribution of the brain vasculature to autism spectrum disorders (ASD). A recent postmortem study in young ASD brains suggested an impairment in angiogenesis, a process through which new vessels are formed. A

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3

Jo, Adrienne. "Reduced Expression of Single 16p11.2 CNV Genes Alters Neuronal Morphology." Scholarship @ Claremont, 2019. https://scholarship.claremont.edu/cmc_theses/2091.

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The 16p11.2 copy-number variant (CNV) represents a well-characterized, high-risk factor for autism spectrum disorder that additionally predisposes deletion carriers (16pdel) to increased head circumference, known as macrocephaly. The 16p11.2 CNV consists of 29 known genes, many of which are associated with neurobiological processes relevant for macrocephaly such as cell proliferation and apoptosis, differentiation and cell growth. Our lab’s previous work has demonstrated that induced pluripotent stem cell (iPSC)-derived neurons from 16pdel carriers show altered cellular morphology related to g

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4

Dastan, Jila. "Exome sequencing for understanding phenotypic variability in subjects with 16p11.2 CNV." Thesis, University of British Columbia, 2016. http://hdl.handle.net/2429/57796.

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Microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by variable expressivity. I hypothesized that while some unique features reported in individuals with dup16p11.2 may be explained by the over-expression of its integral genes, co-occurrence of other genetic alterations in the genome may account for the variability in their clinical phenotypes. This hypothesis was explored in two unrelated subjects with NDD who each inherited the dup16p11.2 from an apparently healthy carrier parent. First, I performed a detailed phenoty

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5

Georgi, Udo [Verfasser]. "Functional Analysis of Autism Genes in Zebrafish : Investigation of the Autism Related 16p11.2 Deletion / Udo Georgi." Berlin : Freie Universität Berlin, 2014. http://d-nb.info/1051812429/34.

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6

Haslinger, Denise [Verfasser], Amparo [Gutachter] Acker-Palmer, and Christine M. [Gutachter] Freitag. "The ASD-associated CNV 16p11.2: Functional study of the candidate gene QPRT / Denise Haslinger ; Gutachter: Amparo Acker-Palmer, Christine M. Freitag." Frankfurt am Main : Universitätsbibliothek Johann Christian Senckenberg, 2018. http://d-nb.info/1172500584/34.

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7

Menzies, Caitlin. "Characterization of Metabolic Alterations in Mouse Models of Neurodevelopmental Disorders." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42256.

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Background: Prevalence of metabolic disturbances is higher among individuals with neurodevelopmental disorders (NDDs), yet this association has been poorly studied. Investigation into human disease remains challenging, as a complete pathophysiological understanding relies on accurate modeling and highly controlled variables. As such, genetically engineered mouse models are increasingly used to gain insight into the biology of human NDDs, but preclinical research focus has been mainly on behavioral and neurophysiological abnormalities. Mouse models engineered to embody human-equivalent genetic

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8

Kempfer, Rieke. "Chromatin folding in health and disease: exploring allele-specific topologies and the reorganization due to the 16p11.2 deletion in autism-spectrum disorder." Doctoral thesis, Humboldt-Universität zu Berlin, 2020. http://dx.doi.org/10.18452/22071.

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Die 3D Struktur von Chromosomen im Zellkern reguliert verschiedene Funktionen in der Zelle und Fehler in der 3D Faltung des Genoms können pathogen sein. 3D Genomfaltung kann mit verschiedenen Methoden untersucht werden um Chromatinkontakte, sowie die Position von DNA in Relation zu sub-nuklearen Bereichen oder der Kernmembran zu detektieren. Hier verwende ich GAM und Hi-C um zwei Aspekte der 3D Genomtopologie zu untersuchen, die Allelspezifität von Chromatinkontakten und Kontakte zwischen Chromosomen. Ich untersuche allelspezifische Kontakte in murinen embryonalen Stammzellen und Interaktionen

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9

Kempfer, Rieke [Verfasser]. "Chromatin folding in health and disease: exploring allele-specific topologies and the reorganization due to the 16p11.2 deletion in autism-spectrum disorder. / Rieke Kempfer." Berlin : Humboldt-Universität zu Berlin, 2020. http://d-nb.info/1221128973/34.

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10

Martin, Lorenzo Sandra. "Approches génétiques et thérapeutiques visant à comprendre et atténuer les conséquences de la délétion et duplication de la région 16p11.2 dans des modèles précliniques." Thesis, Strasbourg, 2019. http://www.theses.fr/2019STRAJ064.

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Les variations du nombre de copies (CNVs) des régions chromosomiques sont une source importante de variabilité chez l’humain. Ainsi certaines altérations structurelles ont été associées à des maladies syndromiques comme les CNVs de la région 16p11.2. Les réarrangements de cette région représentent un facteur de risque important pour le diagnostic de troubles du neurodéveloppement, tels que la déficience intellectuelle et les troubles du spectre autistique (ASD). Pourtant, la grande densité en gènes de la région et la forte variabilité phénotypique rendent leur étude complexe. La modélisation c

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11

Volckmar, Anna-Lena Verfasser], Johannes [Akademischer Betreuer] [Hebebrand, and Bernhard [Akademischer Betreuer] Horsthemke. "Weiterführende Analyse von Adipositas-Kandidatengenen in der chromosomalen Region 16p11.2, die in genomweiten Assoziationstudien identifiziert wurde / Anna-Lena Volckmar. Gutachter: Bernhard Horsthemke. Betreuer: Johannes Hebebrand." Duisburg, 2013. http://d-nb.info/1043906215/34.

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12

Arbogast, Thomas. "Apport des modèles murins à la compréhension des maladies associées à des variations du nombre de copies : monosomie 21 partielle et délétions et duplications des régions 16p11.2 et 17q21.31." Thesis, Strasbourg, 2014. http://www.theses.fr/2014STRAJ027/document.

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Les variations du nombre de copies (CNVs) incluent les délétions et les duplications de régions chromosomiques d’une taille variant de 50 pb à plusieurs Mb. Depuis 2005, les études d’association pangénomiques (GWAS) ont permis d’associer certains larges CNVs à des maladies syndromiques associées à la déficience intellectuelle incluant les syndromes de DiGeorge, Williams, Angelman, etc. En fonction de la densité génique de la région d’intérêt et de la variabilité des phénotypes associés, l’étude de la physiopathologie des syndromes peut être extrêmement complexe. La modélisation murine offre de

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13

Greenham, Jaimie Alexanda. "The identification and integration of transcripts mapping to human chromosome 16p12.2." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286479.

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14

Creavin, Treasa Agnes Della Geraldine. "Transcriptional mapping of human chromosome 16p12.3-p12.2." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321891.

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15

Pape, Dorothee Verita [Verfasser], and Guido [Akademischer Betreuer] Sauter. "Prävalenz und klinische Signifikanz von 16p13.2 Gen- Amplifikationen im humanen Harnblasenkarzinom / Dorothee Verita Pape. Betreuer: Guido Sauter." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2013. http://d-nb.info/1045023914/34.

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16

Battilana, Jaqueline. "Variabilidade genética em populações ameríndias e asiáticas : região 16p13.3 e inserções Alu." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2005. http://hdl.handle.net/10183/4853.

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Um estudo envolvendo populações asiáticas e ameríndias foi realizado para avaliar os relacionamentos históricos e genéticos entre eles através de polimorfismos moleculares autossômicos. Um deles é uma seqüência polimórfica localizada na região 16p13.3. Um total de 1558 pares de base foram investigados em 98 indivíduos da Mongólia, Beringia e das Américas. Estes resultados foram comparados com aqueles obtidos em uma prévia investigação por outros autores. Cinqüenta e cinco sítios polimórficos foram classificados em trinta e cinco haplótipos. Uma árvore de haplótipos (median joining network) bas

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17

Gill, Richard. "Genetic Epidemiological Characterization of Two Major Obesity Candidate Genes: The 16p11.2 BP4-BP5 Microdeletion and the Fat-Mass and Obesity-Associated (FTO) Locus." Thesis, 2016. https://doi.org/10.7916/D8D79B5Z.

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Background: The obesity epidemic is the greatest public health problem of our time, and exerts an enormous health and economic burden by acting as a risk factor for multiple disorders and all-cause mortality. While environmental and social factors certainly contribute to the complex etiology of obesity, there is strong evidence of a substantial genetic component. The majority of obesity genes are involved the leptin-melanocortin receptor pathway governing energy homeostasis, but mutations affecting this circuit are often untreatable and rare, and an improved understanding of other genetic risk

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18

Jong, Yiin-Jeng, and 鍾尹禎. "Genomic study of the breast cancer in Taiwan- focusing on aberrations in chromosome 16p13.3 region." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/83184870750793182725.

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博士<br>國立陽明大學<br>生命科學暨基因體科學研究所<br>96<br>Breast cancer has become one of the most common and deadly female cancers in Taiwan. Although the overall incidence here is still low compared with the western societies, the presence of young patient population makes this disease one of the prime targets for cancer researches in Taiwan. Aiming to identify genomic characteristics or genetic markers associated with the early-onset group of the breast cancers, we have conducted a series of genome-wide scanning experiments on breast cancers using comparative genomic hybridization (CGH), array-CGH and real-ti

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